PERRS
MCID: PRL047
MIFTS: 43

Prolonged Electroretinal Response Suppression (PERRS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Prolonged Electroretinal Response Suppression

MalaCards integrated aliases for Prolonged Electroretinal Response Suppression:

Name: Prolonged Electroretinal Response Suppression 57 12 20 43 58 72 44 39
Bradyopsia 57 12 20 43 58 72 36 29 13 6 15
Perrs 57 20 43 58 72

Characteristics:

Orphanet epidemiological data:

58
bradyopsia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

31
prolonged electroretinal response suppression:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050335
OMIM® 57 608415
KEGG 36 H00973
MeSH 44 C564243
SNOMED-CT 67 711163009
ICD10 via Orphanet 33 H53.8
Orphanet 58 ORPHA75374
MedGen 41 C1842073
UMLS 70 C1842073

Summaries for Prolonged Electroretinal Response Suppression

MedlinePlus Genetics : 43 Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal.The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time.

MalaCards based summary : Prolonged Electroretinal Response Suppression, also known as bradyopsia, is related to oligocone trichromacy and pathologic nystagmus. An important gene associated with Prolonged Electroretinal Response Suppression is RGS9 (Regulator Of G Protein Signaling 9), and among its related pathways/superpathways are Phototransduction and Signaling by GPCR. Affiliated tissues include eye and retina, and related phenotypes are visual impairment and photophobia

Disease Ontology : 12 A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75374 Definition Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. Epidemiology It has been described in five unrelated patients with symptoms present since childhood. Etiology The disorder is caused by recessive mutations in the RGS9 ( chromosome 17q23-q24) or R9AP (chromosome 19q13.11) genes.

KEGG : 36 Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing moving objects. Visual acuity is normal to moderately reduced in the affected individuals. Recessive mutations have been reported in the genes encoding RGS9 and R9AP that have a critical role in the recovery phase of visual transduction.

UniProtKB/Swiss-Prot : 72 Prolonged electroretinal response suppression: Characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones.

More information from OMIM: 608415

Related Diseases for Prolonged Electroretinal Response Suppression

Diseases related to Prolonged Electroretinal Response Suppression via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 oligocone trichromacy 29.6 GNAT2 CNGB3 CNGA3
2 pathologic nystagmus 28.8 RHO KCNV2 GNAT2 CNGB3 CNGA3
3 nutritional optic neuropathy 10.3 RGS9BP KCNV2
4 vertebral artery insufficiency 10.3 RGS9BP KCNV2
5 abnormal threshold of rods 10.3 RGS9BP GRK1
6 night blindness, congenital stationary, type 1h 10.2 RGS6 GNB5
7 bardet-biedl syndrome 4 10.2 RGS9BP GUCA1A
8 charcot-marie-tooth disease, dominant intermediate f 10.2 RGS6 GNB5
9 nephronophthisis 4 10.1 RGS9BP KCNV2
10 oguchi disease 1 10.1 RGS9BP GRK7 GRK1
11 oguchi disease 2 10.1 RGS9BP GRK7 GRK1
12 oguchi disease 10.1 RHO RDH5 GRK1
13 newfoundland rod-cone dystrophy 10.1 RHO RDH5
14 retinitis pigmentosa 39 10.1 RGS9BP GRK7 GNAT2
15 cone dystrophy 3 10.0 RHO KCNV2 GUCA1A
16 night blindness, congenital stationary, type 2a 10.0 GRK1 GNAT2
17 night blindness, congenital stationary, type 1b 10.0 RGS7 GNB5
18 myasthenic syndrome, congenital, 3a, slow-channel 10.0 RHO GRK7 GRK1
19 acquired night blindness 10.0 RGS9BP NR2E3 KCNV2
20 patterned macular dystrophy 10.0 RHO NR2E3
21 ifap syndrome 2 10.0
22 refractive error 9.9
23 macular dystrophy, dominant cystoid 9.9 RHO NR2E3
24 occult macular dystrophy 9.9 RHO KCNV2 CNGB3
25 stargardt disease 1 9.9 RHO KCNV2 CNGB3
26 usher syndrome type 2 9.8 RHO NR2E3 GRK1
27 retinitis pigmentosa 44 9.8 CNGB3 CNGA3
28 color vision deficiency 9.8 NR2E3 CNGA3
29 leber congenital amaurosis 2 9.7 RHO CNGB3
30 retinitis pigmentosa 26 9.7 GUCA1A CNGB3 CNGA3
31 cone-rod dystrophy 8 9.7 GNAT2 CNGB3 CNGA3
32 achromatopsia 7 9.7 GNAT2 CNGB3 CNGA3
33 fundus albipunctatus 9.7 RHO RGS9BP RDH5 NR2E3 GRK1
34 tritanopia 9.7 GNAT2 CNGB3 CNGA3
35 achromatopsia 3 9.6 GNAT2 CNGB3 CNGA3
36 jalili syndrome 9.6 GNAT2 CNGB3 CNGA3
37 choroid disease 9.6 RHO CNGB3 CNGA3
38 choroideremia 9.6 RHO CNGB3 CNGA3
39 vitelliform macular dystrophy 9.5 RHO KCNV2 CNGB3 CNGA3
40 red-green color blindness 9.5 RHO GNAT2 CNGB3 CNGA3
41 colorblindness, partial, protan series 9.5 RHO GNAT2 CNGB3 CNGA3
42 night blindness 9.4 RHO RDH5 NR2E3 KCNV2 GRK7 GRK1
43 retinal degeneration 9.4 RHO RDH5 NR2E3 GUCA1A GRK1 GNAT2
44 scotoma 9.4 RHO KCNV2 GUCA1A CNGB3 CNGA3
45 achromatopsia 2 9.3 NR2E3 GNAT2 CNGB3 CNGA3
46 blue cone monochromacy 9.3 NR2E3 GNAT2 CNGB3 CNGA3
47 achromatopsia 4 9.3 RHO KCNV2 GNAT2 CNGB3 CNGA3
48 cone-rod dystrophy 6 9.3 RDH5 KCNV2 GUCA1A GNAT2 CNGB3 CNGA3
49 leber congenital amaurosis 1 9.2 RHO GUCA1A GRK7 GRK1 CNGB3 CNGA3
50 color blindness 9.1 RHO NR2E3 GNAT2 CNGB3 CNGA3

Graphical network of the top 20 diseases related to Prolonged Electroretinal Response Suppression:



Diseases related to Prolonged Electroretinal Response Suppression

Symptoms & Phenotypes for Prolonged Electroretinal Response Suppression

Human phenotypes related to Prolonged Electroretinal Response Suppression:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
3 bradyopsia 31 HP:0030511

Clinical features from OMIM®:

608415 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Prolonged Electroretinal Response Suppression:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.8 CNGA3 CNGB3 GNAT2 GNB5 GRK1 GUCA1A
2 vision/eye MP:0005391 9.47 CNGA3 CNGB3 GNAT2 GNB5 GRK1 GUCA1A

Drugs & Therapeutics for Prolonged Electroretinal Response Suppression

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vascular and Neuro-inflammatory Effects of Endurance Exercise Training in African Americans Completed NCT01024634

Search NIH Clinical Center for Prolonged Electroretinal Response Suppression

Cochrane evidence based reviews: prolonged electroretinal response suppression

Genetic Tests for Prolonged Electroretinal Response Suppression

Genetic tests related to Prolonged Electroretinal Response Suppression:

# Genetic test Affiliating Genes
1 Bradyopsia 29 RGS9 RGS9BP

Anatomical Context for Prolonged Electroretinal Response Suppression

MalaCards organs/tissues related to Prolonged Electroretinal Response Suppression:

40
Eye, Retina

Publications for Prolonged Electroretinal Response Suppression

Articles related to Prolonged Electroretinal Response Suppression:

(show all 15)
# Title Authors PMID Year
1
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. 61 57 6
14702087 2004
2
Prolonged electro-retinal response suppression (PERRS) in patients with stationary subnormal visual acuity and photophobia. 57
1790747 1991
3
Unique retinal signaling defect in GNB5-related disease. 61
31720979 2020
4
ISCEV extended protocol for the dark-adapted red flash ERG. 61
29934801 2018
5
The clinical presentation of bradyopsia in children. 61
29107794 2017
6
The cone dysfunction syndromes. 61
25770143 2016
7
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. 61
26957898 2016
8
Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia). 61
26343007 2015
9
Photophobia and abnormally sustained pupil responses in a mouse model of bradyopsia. 61
25257059 2014
10
Timing is everything: GTPase regulation in phototransduction. 61
24265205 2013
11
Pathognomonic (diagnostic) ERGs. A review and update. 61
23263253 2013
12
Genetic variations strongly influence phenotypic outcome in the mouse retina. 61
21779340 2011
13
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). 61
19818506 2010
14
Six patients with bradyopsia (slow vision): clinical features and course of the disease. 61
17826834 2007
15
Bradyopsia in an Asian man. 61
17698770 2007

Variations for Prolonged Electroretinal Response Suppression

ClinVar genetic disease variations for Prolonged Electroretinal Response Suppression:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RGS9BP NM_207391.3(RGS9BP):c.193dup (p.Arg65fs) Duplication Pathogenic 2831 rs758583548 GRCh37: 19:33167360-33167361
GRCh38: 19:32676454-32676455
2 RGS9BP NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs) Indel Pathogenic 993023 GRCh37: 19:33167492-33167511
GRCh38: 19:32676586-32676605
3 RGS9 NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) SNV Pathogenic 5862 rs121908449 GRCh37: 17:63193278-63193278
GRCh38: 17:65197160-65197160
4 RGS9 NM_003835.4(RGS9):c.382C>T (p.Arg128Ter) SNV Pathogenic 1034034 GRCh37: 17:63156986-63156986
GRCh38: 17:65160868-65160868
5 RGS9 NM_003835.4(RGS9):c.458A>G (p.Tyr153Cys) SNV Uncertain significance 635083 rs755034844 GRCh37: 17:63159165-63159165
GRCh38: 17:65163047-65163047
6 RGS9BP NM_207391.3(RGS9BP):c.365C>G (p.Ser122Cys) SNV Uncertain significance 522947 rs749927570 GRCh37: 19:33167534-33167534
GRCh38: 19:32676628-32676628

UniProtKB/Swiss-Prot genetic disease variations for Prolonged Electroretinal Response Suppression:

72
# Symbol AA change Variation ID SNP ID
1 RGS9 p.Trp299Arg VAR_017912 rs121908449

Expression for Prolonged Electroretinal Response Suppression

Search GEO for disease gene expression data for Prolonged Electroretinal Response Suppression.

Pathways for Prolonged Electroretinal Response Suppression

Pathways related to Prolonged Electroretinal Response Suppression according to KEGG:

36
# Name Kegg Source Accession
1 Phototransduction hsa04744

Pathways related to Prolonged Electroretinal Response Suppression according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 RHO RGS9BP RGS9 RGS7 RGS6 RGS4
2
Show member pathways
13.36 RHO RGS9 RGS7 RGS6 RGS4 RGS11
3
Show member pathways
13.29 RGS9 RGS7 RGS6 RGS4 RGS11 KCNV2
4
Show member pathways
12.51 RGS9 RGS7 RGS6 RGS4 RGS11 GNB5
5
Show member pathways
12.4 RGS9 RGS7 RGS6 RGS4 RGS11 GNB5
6
Show member pathways
12.37 RGS9 RGS7 RGS6 RGS4 RGS11 GNB5
7
Show member pathways
12.27 RGS9 RGS7 RGS6 RGS11 GNB5 GNAT2
8
Show member pathways
12.09 RHO RGS9BP RGS9 RDH5 GUCA1A GRK7
9 11.89 GRK7 GRK1 GNB5
10
Show member pathways
11.56 RHO RGS9BP RGS9 RDH5 GUCA1A GRK7
11 11.53 RHO RGS9 RDH5 GUCA1A GRK1 GNAT2

GO Terms for Prolonged Electroretinal Response Suppression

Cellular components related to Prolonged Electroretinal Response Suppression according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.2 RHO RGS9BP RGS9 RGS7BP RGS7 RGS6
2 plasma membrane GO:0005886 10.14 RHO RGS9 RGS7BP RGS7 RGS6 RGS4
3 photoreceptor inner segment GO:0001917 9.43 RHO GUCA1A GNAT2
4 photoreceptor outer segment membrane GO:0042622 9.37 RHO GNAT2
5 photoreceptor disc membrane GO:0097381 9.26 RHO GUCA1A GRK7 GRK1
6 transmembrane transporter complex GO:1902495 9.16 CNGB3 CNGA3
7 photoreceptor outer segment GO:0001750 9.1 RHO RGS9BP GUCA1A GRK1 GNAT2 CNGB3

Biological processes related to Prolonged Electroretinal Response Suppression according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.11 RHO NR2E3 GUCA1A GRK7 GRK1 GNB5
2 G protein-coupled receptor signaling pathway GO:0007186 10.06 RHO RGS9 RGS7BP RGS7 RGS6 RGS4
3 positive regulation of GTPase activity GO:0043547 9.91 RGS9 RGS7 RGS6 RGS4 RGS11 GNB5
4 protein folding GO:0006457 9.78 RGS9 RGS7 GNB5 GNAT2
5 negative regulation of signal transduction GO:0009968 9.7 RGS9BP RGS9 RGS7BP RGS7 RGS6 RGS4
6 response to stimulus GO:0050896 9.7 RHO RGS9BP RGS9 RDH5 NR2E3 GUCA1A
7 phototransduction GO:0007602 9.67 RHO NR2E3 GUCA1A GNAT2
8 regulation of G protein-coupled receptor signaling pathway GO:0008277 9.65 RGS9 RGS6 RGS4 RGS11 GRK1
9 regulation of rhodopsin mediated signaling pathway GO:0022400 9.62 RHO GUCA1A GRK7 GRK1
10 response to amphetamine GO:0001975 9.54 RGS9 RGS4
11 detection of light stimulus involved in visual perception GO:0050908 9.52 RGS9BP GNAT2
12 dopamine receptor signaling pathway GO:0007212 9.51 RGS9 GNB5
13 rhodopsin mediated signaling pathway GO:0016056 9.49 RHO GRK1
14 visual perception GO:0007601 9.36 RHO RGS9BP RGS9 RDH5 NR2E3 GUCA1A

Molecular functions related to Prolonged Electroretinal Response Suppression according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein beta-subunit binding GO:0031681 9.46 RGS7 RGS11
2 cGMP binding GO:0030553 9.43 CNGB3 CNGA3
3 GTPase activator activity GO:0005096 9.43 RGS9 RGS7 RGS6 RGS4 RGS11 GNB5
4 G protein-coupled photoreceptor activity GO:0008020 9.4 RHO GNAT2
5 intracellular cAMP-activated cation channel activity GO:0005222 9.37 CNGB3 CNGA3
6 intracellular cGMP-activated cation channel activity GO:0005223 9.32 CNGB3 CNGA3
7 G protein-coupled receptor kinase activity GO:0004703 9.26 GRK7 GRK1
8 GTPase activity GO:0003924 9.17 RGS9 RGS7 RGS6 RGS4 RGS11 GNB5
9 rhodopsin kinase activity GO:0050254 9.16 GRK7 GRK1

Sources for Prolonged Electroretinal Response Suppression

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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